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|Year : 1976 | Volume
| Issue : 4 | Page : 201-203
Hemoglobin-E, disease with mitral stenosis (A case report)
AU Sheth, SG Dalvi, CP Dalvi
Department of Medicine, K. E. M. Hospital and Seth G. S. Medical College, Parel, Bombay-400012, India
A U Sheth
Department of Medicine, K. E. M. Hospital and Seth G. S. Medical College, Parel, Bombay-400012
Source of Support: None, Conflict of Interest: None
A case of hemoglobin-E disease with rheumatic mitral stenosis is presented. Reported world incidence is mentioned. Association of heart disease with hemolytic anemia is discussed.
|How to cite this article:|
Sheth A U, Dalvi S G, Dalvi C P. Hemoglobin-E, disease with mitral stenosis (A case report). J Postgrad Med 1976;22:201-3
| :: Introduction|| |
Hemoglobin-E Disease was first described in a family of partly Indian origin by Itano et al  in 1954. However, the disease is comparatively rare in the Indian Sub-continent. Hemoglobin-E, has an electrophoretic mobility slightly anodal to Hemoglobin-C, at pH-8.6 and is about equal in solubility to Hemoglobin-A. The abnormality results from substitution of lysin for glutamic acid at the 26th amino acid of the β-polypeptide chain. We recently came across one case of Hemoglobin-E disease who, in addition, also had mitral valvular stenosis. The case is being presented because of rarity of such an association.
| :: Case history|| |
B.S. A 25 year old male from the province of Andhra was admitted on 23.3.1976 in our hospital. The presenting symptoms were exertional dyspnoea for one year and jaundice since childhood. Jaundice was mild and fluctuating; exacerbations were preceded by fever, body ache and joint pains.
He was the eldest son of a non-consanguinous marriage and had 2 sisters and one brother. All were said to be in good health. One of his younger brother died at the age of 9 years and was said to be having jaundice and splenomegaly. Apart from this there was no one in the family having similar complaints. We have not examined any of his family members as they all reside in his village and cannot come to Bombay.
Physical examination revealed a mode rate icterus, hepatomegaly (1 cm below the costal margin), and splenomegaly (6 cms below the costal margin). Cardiovascular examination revealed a normal sized heart with a loud first heart sound, an opening snap and a mid-diastolic rumbling murmur with presystolic accentuation. Rest of the systemic examination did not disclose any abnormal findings. He was investigated as follows:
Hb 9.7 gm°%c, PCV 31%, MCHC 31.5%, Reticulocyte count 5.2%, WBC 7300/ cmm, Neutrophils 56%, Eosinophils 11%, Lymphocytes 32%. RBC morphological study showed poikilocytosis, anisocytosis and target cells 60%. Hemoglobin electrophoretic pattern revealed Hb-E 76%, Hb.F 7.9% and Hb-A 16.1% see [Figure 1].
Sickling and Coomb's test were negative, serum albumin 3.1 gms%, serum globulin 3.0 gm%, total bilirubin 5.3 mg%, direct bilirubin 2.1 mg% and SGPT was 20 units. An echo-cardiogram was done to confirm the diagnosis of mitral valvular stenosis.
| :: Discussion|| |
Hemoglobin-E, is widespread in Far East Asia. It is found in a high proportion of Thais 13.6% , in Burmese 15.3%,  in Cambodians' 35 %  and in some Indonesians,  Ceylonese  and Malaysians. The incidence in India is not well documented except for a single report by Chatterjea et al.  They had studied 700 subjects in Bengal and among them 2 were Hemoglobin-EE (Homozygous) and 25 carriers (Hemoglobin-E.A).
Hemoglobin-E was first discovered simultaneously by Chernoff et al , and Itano et all , in 1954. Homozygous Hemoglobin-E disease is characterized by a mild microcytic, normochromic anaemia with 25-60% target cells, decreased osmotic fragility and minimal signs of hemolytic anaemia. Splenomegaly is absent or slight. Hemoglobin-E is many times associated with Thalassemia. ,, The resulting combination of Thalassemia -Hemoglobin-E disease resembles very closely Thalassemia major. Electrophoretic studies on patients hemoglobin however, is very helpful in differentiating the two conditions.
In the case described by us Hb-E formed 76% of the total hemoglobin in RBCs as against the expected level of 92-98% in a pure Hb-EE disease. This along with the fact that jaundice and significant hepatosplenomegaly were present suggests that he may be suffering from Thalassemia Hemoglobin-E disease and not pure HbEE disease, or he may belong to the group of some atypical Hb-EE disease patients described by Chernoff. ,
As it was not possible to study other members of his family for Thalassemia trait (as they were all in Andhra Pradesh) the correct diagnosis was not possible. If the members of the family could be studied and if Thalassemia trait was detected in any one of them, then a diagnosis of Thalassemia with Hemoglobin-E could be postulated. Presence of Mitral valvular stenosis was purely coincidental.
Heart is affected in many ways in patients with hemolytic anaemia. But a diastolic thrill and murmur with an opening snap are virtually diagnostic of mitral stenosis. This was further confirmed by an echocardiogram. Though a combination like this is rather uncommon it may erroneously be diagnosed as due to subacute bacterial endocarditis when the patient presents with fever, cardiac failure and splenomegaly. However, proper history will establish the fact that splenomegaly is of much longer duration and it is associated with fluctuating jaundice. This will be an indicator that one is dealing with hemolytic anaemia in addition to the cardiac disease.
| :: Acknowledgements|| |
We are thankful to Dr. C. K. Deshpande, Dean, K. E. M. Hospital for giving all facilities to workup this case and Dr B. C. Mehta for doing the hemoglobin electrophoretic pattern.
| :: References|| |
|1.||Brumpt, L. et al.: La De'tection de, L Hamoglobin E; etude des populations combodgeinnes. Rev. Hemat, 13: 21, 1956. As quoted by Wintrobe et al. |
|2.||Chatterjee, J. B., Saha, A. K., Ray, R. N, and Ghosh, S. K.: Hemoglobin EThalassemia disease: Indian J. Med. Sci., 11: 553-564, 1957. |
|3.||Chernoff, A. I., Minnich, Virginia, NaNakorn, S., Soodsarkorn, T., Channivat, K. and Chernoff R. R.: Studies on Hb-E. I-The clinical hematologic and genetic characteristics of the hemoglobin-E syndrome. J, Lab. & Clin. Med., 47: 455-489, 1956. |
|4.||Colbourne, M. J. et al.: Hemoglobin E, and the Diego blood group antigen in Sarawak and Burma. Nature, 181: 119, 1958. As quoted by Wintrobe et al. |
|5.||Graff, I. A. E., Ikin, E. W., Lehmann, H. and Mourant, A. E. et al.: J. Physiol., 127: 411, 1954. As quoted by Lie-Ingo huon Eng. |
|6.||Itano, H. A., Bergen, W. R. and Sturgeon, P.: J. Amer. Chem. Soc., 76: 2276, 1954. As quoted by Lie-Ingo Huon Eng. |
|7.||Lie-Ingo huon Eng., Ocy Hcey Glok: Homozygous hemoglobin E disease in Indonesia. Lancet, 1: 20-25, 1957. |
|8.||Na-Nakorn, S., Minnich, Virginia, Chernoff, A. I., Quagqui-Puag, S. and Chavalekviraj, K.: Studies on Hemoglobin-E. II-The incidence of Hemoglobin--E in Thailand, J. Lab. & Clin. Med., 47: 490-498, 1956. |
|9.||Wintrobe, M. M., Lee, G. R., Boggs, D. R., Bithell, T. C., Athens, J. W. and Foerster, J.: Clinical Hematology, 7th Edition, Lea and Febiger, Philadelphia, p. 847, 1974, reprinted 1975. |